3179 lines
198 KiB
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Entry
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- *602104 - SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*602104</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602104">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000087266;t=ENST00000503393" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=6452" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=602104" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000087266;t=ENST00000503393" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001122681,NM_001145855,NM_001145856,NM_003023" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001122681" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=602104" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=03657&isoform_id=03657_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/SH3BP2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1843392,1843394,2182126,2463626,3023207,18605724,34529772,34533051,50834350,119602912,119602913,119602914,119602915,119602916,119602917,119602918,119602919,170014703,170014705,189055329,194390108,221045150,224994219,224994221,308219272" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/P78314" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=6452" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000087266;t=ENST00000503393" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=SH3BP2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=SH3BP2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+6452" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/SH3BP2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:6452" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6452" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr4&hgg_gene=ENST00000503393.8&hgg_start=2793085&hgg_end=2841096&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/sh3bp2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602104[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602104[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000087266" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=SH3BP2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=SH3BP2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=SH3BP2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=SH3BP2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA35733" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:10825" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1346349" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/SH3BP2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:1346349" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/6452/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=6452" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-091204-268" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:602104" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6452" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=SH3BP2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 76098004<br />
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<strong>ICD10CM:</strong> M27.8<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602104
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SH3BP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SH3BP2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/4/47?start=-3&limit=10&highlight=47">4p16.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:2793085-2841096&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">4:2,793,085-2,841,096</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/4/47?start=-3&limit=10&highlight=47">
|
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4p16.3
|
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</a>
|
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</span>
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</td>
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<td>
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<span class="mim-font">
|
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Cherubism
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</span>
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</td>
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<td>
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<span class="mim-font">
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|
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<a href="/entry/118400"> 118400 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/602104" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602104" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
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</span>
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</h4>
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<div>
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<p><a href="#1" class="mim-tip-reference" title="Bell, S. M., Shaw, M., Jou, Y.-S., Myers, R. M., Knowles, M. A. <strong>Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.</strong> Genomics 44: 163-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299232</a>] [<a href="https://doi.org/10.1006/geno.1997.4849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299232">Bell et al. (1997)</a> isolated a 2.4-kb cDNA clone corresponding to the mouse Sh3bp2 gene from a human fetal brain cDNA library. The deduced 561-residue protein contains an Src homology 2 (SH2) domain, an Src homology 3 (SH3)-binding domain, and a pleckstrin (<a href="/entry/173570">173570</a>) homology domain, suggesting a possible role in signal transduction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The SH3BP2 gene contains 13 exons and spans approximately 16 kb (<a href="#1" class="mim-tip-reference" title="Bell, S. M., Shaw, M., Jou, Y.-S., Myers, R. M., Knowles, M. A. <strong>Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.</strong> Genomics 44: 163-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299232</a>] [<a href="https://doi.org/10.1006/geno.1997.4849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299232">Bell et al., 1997</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bell, S. M., Shaw, M., Jou, Y.-S., Myers, R. M., Knowles, M. A. <strong>Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.</strong> Genomics 44: 163-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299232</a>] [<a href="https://doi.org/10.1006/geno.1997.4849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299232">Bell et al. (1997)</a> determined that the SH3BP2 gene maps to chromosome 4p16.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bell, S. M., Shaw, M., Jou, Y.-S., Myers, R. M., Knowles, M. A. <strong>Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.</strong> Genomics 44: 163-170, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299232</a>] [<a href="https://doi.org/10.1006/geno.1997.4849" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9299232">Bell et al. (1997)</a> noted that SH3BP2 is a gene of interest in cancer because of potential negative regulation of the ABL (<a href="/entry/189980">189980</a>) oncogene. However, mutational analysis and expression studies in bladder cancer samples found no evidence that this gene is a tumor suppressor gene involved in bladder cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In affected members of 12 families with cherubism (<a href="/entry/118400">118400</a>), an autosomal dominant disorder characterized by excessive bone degradation of the upper and lower jaws, <a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> identified mutations in the SH3BP2 gene (see, e.g., <a href="#0001">602104.0001</a>-<a href="#0007">602104.0007</a>). All mutations were located in exon 9 and affected 3 amino acids within a 6-amino acid sequence (RSPPDG) located 31 to 36 amino acids upstream of the SH2 domain and 205 to 210 amino acids downstream of the SH3-binding domain. Mutations in pro418 were the most common and occurred in 8 families. The results and the clustering of mutations in SH3BP2 supported the hypothesis that the mutations in SH3BP2 lead to a gain of function or act in a dominant-negative manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#3" class="mim-tip-reference" title="Ueki, Y., Lin, C.-Y., Senoo, M., Ebihara, T., Agata, N., Onji, M., Saheki, Y., Kawai, T., Mukherjee, P. M., Reichenberger, E., Olsen, B. R. <strong>Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 'cherubism' mice.</strong> Cell 128: 71-83, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218256</a>] [<a href="https://doi.org/10.1016/j.cell.2006.10.047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17218256">Ueki et al. (2007)</a> found that mice with a P416R mutation in the Sh3bp2 gene, which is equivalent to P418R in humans (<a href="#0002">602104.0002</a>), showed trabecular bone loss, osteoporosis, increased numbers of osteoclasts, TNF-alpha (<a href="/entry/191160">191160</a>)-dependent systemic macrophage inflammation, and cortical bone erosion. The phenotype was more evident in homozygous mice. Cellular studies showed that mutant myeloid cells showed increased responses to M-CSF (<a href="/entry/120420">120420</a>) and RANKL (<a href="/entry/602642">602642</a>) stimulation and formed macrophages that expressed high levels of TNF-alpha. There was also increased phosphorylation of SYK kinase (<a href="/entry/600085">600085</a>). <a href="#3" class="mim-tip-reference" title="Ueki, Y., Lin, C.-Y., Senoo, M., Ebihara, T., Agata, N., Onji, M., Saheki, Y., Kawai, T., Mukherjee, P. M., Reichenberger, E., Olsen, B. R. <strong>Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 'cherubism' mice.</strong> Cell 128: 71-83, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218256</a>] [<a href="https://doi.org/10.1016/j.cell.2006.10.047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17218256">Ueki et al. (2007)</a> concluded that cherubism is primarily a consequence of abnormal gain of myeloid cell function and that SH3BP2 is a critical regulator of myeloid cell responses. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17218256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>7 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=602104[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909146 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909146;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007983" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007983" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007983</a>
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<p><a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> found a pro418-to-leu (P418L) mutation of the SH3BP2 gene in patients with cherubism (<a href="/entry/118400">118400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909146 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909146;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007984 OR RCV000486508" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007984, RCV000486508" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007984...</a>
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<p><a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> found a pro418-to-arg (P418R) mutation of the SH3BP2 gene in patients with cherubism (<a href="/entry/118400">118400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909146 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909146;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909146" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007985" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007985" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007985</a>
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<p><a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> found a pro418-to-his (P418H) mutation of the SH3BP2 gene in patients with cherubism (<a href="/entry/118400">118400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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SH3BP2, ARG415PRO
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909149 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909149;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007986" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007986" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007986</a>
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<p><a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> found an arg415-to-pro (A415P) mutation of the SH3BP2 gene in patients with cherubism (<a href="/entry/118400">118400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 CHERUBISM</strong>
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SH3BP2, ARG415GLN
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121909149 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121909149;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121909149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121909149" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007987 OR RCV003886359" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007987, RCV003886359" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007987...</a>
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<p><a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> found an arg415-to-gln (A415Q) mutation of the SH3BP2 gene in patients with cherubism (<a href="/entry/118400">118400</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0006" class="mim-anchor"></a>
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<strong>.0006 CHERUBISM</strong>
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SH3BP2, GLY420ARG
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28938170 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28938170;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28938170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28938170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007988" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007988" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007988</a>
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<p>In 5 individuals with cherubism (<a href="/entry/118400">118400</a>) from 2 generations of a family, <a href="#2" class="mim-tip-reference" title="Lo, B., Faiyaz-Ul-Haque, M., Kennedy, S., Aviv, R., Tsui, L.-C., Teebi, A. S. <strong>Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.</strong> Am. J. Med. Genet. 121A: 37-40, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900899</a>] [<a href="https://doi.org/10.1002/ajmg.a.20226" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12900899">Lo et al. (2003)</a> identified a G-to-A transition in exon 9 of the SH3BP2 gene, resulting in a gly420-to-arg (G420R) substitution. In this family, G420R was caused by the change of GGG (gly) to AGG (arg); a family in which G420R was caused by a change from GGG to CGG (arg) had previously been reported (<a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al., 2001</a>). The manifestations were on the whole milder than those of many published cases (see, e.g., Figure 1 in <a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a>). One transmitting female was judged to be unaffected. In the proband, the diagnosis had been made at the age of 8 years and surgical excision of fibrodysplastic lesions performed at the age of 11 years; at 41 years of age, he was well and had no health concerns. See also G420E (<a href="#0007">602104.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12900899+11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0007" class="mim-anchor"></a>
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<strong>.0007 CHERUBISM</strong>
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SH3BP2, GLY420GLU
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs28938171 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs28938171;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs28938171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs28938171" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000007989" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007989" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007989</a>
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<p>In a family with cherubism (<a href="/entry/118400">118400</a>), <a href="#4" class="mim-tip-reference" title="Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E. <strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong> Nature Genet. 28: 125-126, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>] [<a href="https://doi.org/10.1038/88832" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11381256">Ueki et al. (2001)</a> identified a GGG-to-GAG transition in exon 9 of the SH3BP2 gene, which changed codon 420 from gly to glu (G420E). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="Bell1997" class="mim-anchor"></a>
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Bell, S. M., Shaw, M., Jou, Y.-S., Myers, R. M., Knowles, M. A.
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<strong>Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.</strong>
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Genomics 44: 163-170, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9299232/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9299232</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9299232" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4849" target="_blank">Full Text</a>]
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<a id="Lo2003" class="mim-anchor"></a>
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Lo, B., Faiyaz-Ul-Haque, M., Kennedy, S., Aviv, R., Tsui, L.-C., Teebi, A. S.
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<strong>Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.</strong>
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Am. J. Med. Genet. 121A: 37-40, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12900899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12900899</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12900899" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20226" target="_blank">Full Text</a>]
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<a id="Ueki2007" class="mim-anchor"></a>
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Ueki, Y., Lin, C.-Y., Senoo, M., Ebihara, T., Agata, N., Onji, M., Saheki, Y., Kawai, T., Mukherjee, P. M., Reichenberger, E., Olsen, B. R.
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<strong>Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 'cherubism' mice.</strong>
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Cell 128: 71-83, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17218256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.cell.2006.10.047" target="_blank">Full Text</a>]
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<a id="Ueki2001" class="mim-anchor"></a>
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Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E.
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<strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong>
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Nature Genet. 28: 125-126, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11381256/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11381256</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11381256" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/88832" target="_blank">Full Text</a>]
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Cassandra L. Kniffin - updated : 11/20/2007
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Victor A. McKusick - updated : 5/24/2001
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Victor A. McKusick : 11/7/1997
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wwang : 12/14/2007
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ckniffin : 11/20/2007<br>ckniffin : 11/20/2007<br>tkritzer : 9/23/2003<br>tkritzer : 9/18/2003<br>terry : 8/25/2003<br>terry : 8/25/2003<br>alopez : 5/29/2001<br>terry : 5/24/2001<br>carol : 6/26/1998<br>jenny : 11/7/1997
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<strong>*</strong> 602104
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<h3>
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SH3 DOMAIN-BINDING PROTEIN 2; SH3BP2
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<strong><em>HGNC Approved Gene Symbol: SH3BP2</em></strong>
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<strong>SNOMEDCT:</strong> 76098004;
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<strong>ICD10CM:</strong> M27.8;
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Cytogenetic location: 4p16.3
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<span class="small">(from NCBI)</span>
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Phenotype
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Inheritance
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4p16.3
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Cherubism
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118400
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Autosomal dominant
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3
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<p>Bell et al. (1997) isolated a 2.4-kb cDNA clone corresponding to the mouse Sh3bp2 gene from a human fetal brain cDNA library. The deduced 561-residue protein contains an Src homology 2 (SH2) domain, an Src homology 3 (SH3)-binding domain, and a pleckstrin (173570) homology domain, suggesting a possible role in signal transduction. </p>
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<p>The SH3BP2 gene contains 13 exons and spans approximately 16 kb (Bell et al., 1997). </p>
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<strong>Mapping</strong>
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<p>Bell et al. (1997) determined that the SH3BP2 gene maps to chromosome 4p16.3. </p>
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<p>Bell et al. (1997) noted that SH3BP2 is a gene of interest in cancer because of potential negative regulation of the ABL (189980) oncogene. However, mutational analysis and expression studies in bladder cancer samples found no evidence that this gene is a tumor suppressor gene involved in bladder cancer. </p>
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<strong>Molecular Genetics</strong>
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<p>In affected members of 12 families with cherubism (118400), an autosomal dominant disorder characterized by excessive bone degradation of the upper and lower jaws, Ueki et al. (2001) identified mutations in the SH3BP2 gene (see, e.g., 602104.0001-602104.0007). All mutations were located in exon 9 and affected 3 amino acids within a 6-amino acid sequence (RSPPDG) located 31 to 36 amino acids upstream of the SH2 domain and 205 to 210 amino acids downstream of the SH3-binding domain. Mutations in pro418 were the most common and occurred in 8 families. The results and the clustering of mutations in SH3BP2 supported the hypothesis that the mutations in SH3BP2 lead to a gain of function or act in a dominant-negative manner. </p>
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<strong>Animal Model</strong>
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<p>Ueki et al. (2007) found that mice with a P416R mutation in the Sh3bp2 gene, which is equivalent to P418R in humans (602104.0002), showed trabecular bone loss, osteoporosis, increased numbers of osteoclasts, TNF-alpha (191160)-dependent systemic macrophage inflammation, and cortical bone erosion. The phenotype was more evident in homozygous mice. Cellular studies showed that mutant myeloid cells showed increased responses to M-CSF (120420) and RANKL (602642) stimulation and formed macrophages that expressed high levels of TNF-alpha. There was also increased phosphorylation of SYK kinase (600085). Ueki et al. (2007) concluded that cherubism is primarily a consequence of abnormal gain of myeloid cell function and that SH3BP2 is a critical regulator of myeloid cell responses. </p>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CHERUBISM</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SH3BP2, PRO418LEU
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<br />
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SNP: rs121909146,
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ClinVar: RCV000007983
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Ueki et al. (2001) found a pro418-to-leu (P418L) mutation of the SH3BP2 gene in patients with cherubism (118400). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CHERUBISM</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SH3BP2, PRO418ARG
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<br />
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SNP: rs121909146,
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ClinVar: RCV000007984, RCV000486508
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Ueki et al. (2001) found a pro418-to-arg (P418R) mutation of the SH3BP2 gene in patients with cherubism (118400). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 CHERUBISM</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SH3BP2, PRO418HIS
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<br />
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SNP: rs121909146,
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ClinVar: RCV000007985
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Ueki et al. (2001) found a pro418-to-his (P418H) mutation of the SH3BP2 gene in patients with cherubism (118400). </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 CHERUBISM</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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SH3BP2, ARG415PRO
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<br />
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SNP: rs121909149,
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ClinVar: RCV000007986
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Ueki et al. (2001) found an arg415-to-pro (A415P) mutation of the SH3BP2 gene in patients with cherubism (118400). </p>
|
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</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0005 CHERUBISM</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div>
|
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<span class="mim-text-font">
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SH3BP2, ARG415GLN
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|
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<br />
|
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|
|
SNP: rs121909149,
|
|
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|
|
ClinVar: RCV000007987, RCV003886359
|
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|
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</span>
|
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</div>
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>Ueki et al. (2001) found an arg415-to-gln (A415Q) mutation of the SH3BP2 gene in patients with cherubism (118400). </p>
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 CHERUBISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SH3BP2, GLY420ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28938170,
|
|
|
|
|
|
|
|
ClinVar: RCV000007988
|
|
|
|
|
|
</span>
|
|
</div>
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 5 individuals with cherubism (118400) from 2 generations of a family, Lo et al. (2003) identified a G-to-A transition in exon 9 of the SH3BP2 gene, resulting in a gly420-to-arg (G420R) substitution. In this family, G420R was caused by the change of GGG (gly) to AGG (arg); a family in which G420R was caused by a change from GGG to CGG (arg) had previously been reported (Ueki et al., 2001). The manifestations were on the whole milder than those of many published cases (see, e.g., Figure 1 in Ueki et al. (2001)). One transmitting female was judged to be unaffected. In the proband, the diagnosis had been made at the age of 8 years and surgical excision of fibrodysplastic lesions performed at the age of 11 years; at 41 years of age, he was well and had no health concerns. See also G420E (602104.0007). </p>
|
|
</span>
|
|
</div>
|
|
|
|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 CHERUBISM</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
SH3BP2, GLY420GLU
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs28938171,
|
|
|
|
|
|
|
|
ClinVar: RCV000007989
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a family with cherubism (118400), Ueki et al. (2001) identified a GGG-to-GAG transition in exon 9 of the SH3BP2 gene, which changed codon 420 from gly to glu (G420E). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bell, S. M., Shaw, M., Jou, Y.-S., Myers, R. M., Knowles, M. A.
|
|
<strong>Identification and characterization of the human homologue of SH3BP2, an SH3 binding domain protein within a common region of deletion at 4p16.3 involved in bladder cancer.</strong>
|
|
Genomics 44: 163-170, 1997.
|
|
|
|
|
|
[PubMed: 9299232]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1997.4849]
|
|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lo, B., Faiyaz-Ul-Haque, M., Kennedy, S., Aviv, R., Tsui, L.-C., Teebi, A. S.
|
|
<strong>Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.</strong>
|
|
Am. J. Med. Genet. 121A: 37-40, 2003.
|
|
|
|
|
|
[PubMed: 12900899]
|
|
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|
|
[Full Text: https://doi.org/10.1002/ajmg.a.20226]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ueki, Y., Lin, C.-Y., Senoo, M., Ebihara, T., Agata, N., Onji, M., Saheki, Y., Kawai, T., Mukherjee, P. M., Reichenberger, E., Olsen, B. R.
|
|
<strong>Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 'cherubism' mice.</strong>
|
|
Cell 128: 71-83, 2007.
|
|
|
|
|
|
[PubMed: 17218256]
|
|
|
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|
|
[Full Text: https://doi.org/10.1016/j.cell.2006.10.047]
|
|
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|
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Ueki, Y., Tiziani, V., Santanna, C., Fukai, N., Maulik, C., Garfinkle, J., Ninomiya, C., doAmaral, C., Peters, H., Habal, M., Rhee-Morris, L., Doss, J. B., Kreiborg, S., Olsen, B. R., Reichenberger, E.
|
|
<strong>Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.</strong>
|
|
Nature Genet. 28: 125-126, 2001.
|
|
|
|
|
|
[PubMed: 11381256]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/88832]
|
|
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|
</p>
|
|
</li>
|
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|
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</ol>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
|
</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Cassandra L. Kniffin - updated : 11/20/2007<br>Victor A. McKusick - updated : 5/24/2001
|
|
</span>
|
|
</div>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
|
</span>
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
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Victor A. McKusick : 11/7/1997
|
|
</span>
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</div>
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</div>
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</div>
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<div>
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<br />
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</div>
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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wwang : 12/14/2007<br>ckniffin : 11/20/2007<br>ckniffin : 11/20/2007<br>tkritzer : 9/23/2003<br>tkritzer : 9/18/2003<br>terry : 8/25/2003<br>terry : 8/25/2003<br>alopez : 5/29/2001<br>terry : 5/24/2001<br>carol : 6/26/1998<br>jenny : 11/7/1997
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</span>
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<div>
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